What is Tubulinopathy-associated dysgyria?
Tubulinopathy-associated dysgyria does not yet have FDA-approved treatments tracked on UniteRare.
Key symptoms:
Intellectual disabilitySeizures or epilepsyDelayed motor milestones such as sitting and walkingAbnormal muscle tone (too stiff or too floppy)Speech and language delaysFeeding difficulties in infancySmall head size (microcephaly)Vision problemsAbnormal eye movementsPoor coordination and balanceBehavioral difficultiesDifficulty with fine motor skillsGrowth delays
Clinical phenotype terms (24)— hover any for plain English
- Abnormal brainstem morphologyHP:0002363
- Abnormal thalamus morphologyHP:0010663
- Hypoplasia of the ponsHP:0012110
- Abnormality of the internal capsuleHP:0012502
- DysgyriaHP:0032398
- Abnormal involuntary eye movementsHP:0012547
- AgyriaHP:0031882
- Abnormal morphology of the olfactory bulbHP:0040327
- Inheritance
- Variable
- Can be inherited in different ways depending on the underlying gene
- Age of Onset
- Neonatal
- Begins at or shortly after birth (first 4 weeks)
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for Tubulinopathy-associated dysgyria.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for Tubulinopathy-associated dysgyria at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for Tubulinopathy-associated dysgyria.
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Tubulinopathy-associated dysgyria.
Community
No community posts yet. Be the first to share your experience with Tubulinopathy-associated dysgyria.
Start the conversation →Latest news about Tubulinopathy-associated dysgyria
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
No recent news articles for Tubulinopathy-associated dysgyria.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific gene mutation does my child have, and what does it mean for their development?,How severe is the brain malformation, and what abilities might my child develop over time?,What is the best plan for managing seizures, and what should I do if a seizure lasts too long?,What therapies should we start right away, and how often should they occur?,Are there any clinical trials or research studies my child might be eligible for?,Should other family members be tested for this genetic change?,What support services and educational resources are available for our family?
Common questions about Tubulinopathy-associated dysgyria
What is Tubulinopathy-associated dysgyria?
Tubulinopathy-associated dysgyria is a rare brain malformation disorder that affects how the brain develops before birth. The term "dysgyria" refers to abnormal folding patterns on the surface of the brain. Normally, the brain has a characteristic pattern of ridges (called gyri) and grooves (called sulci), but in this condition, these folds do not form correctly. This happens because of mutations in genes that produce proteins called tubulins, which are essential building blocks of the cell's internal skeleton (cytoskeleton). Tubulins play a critical role in helping brain cells (neurons) move
At what age does Tubulinopathy-associated dysgyria typically begin?
Typical onset of Tubulinopathy-associated dysgyria is neonatal. Age of onset can vary across affected individuals.
Frequently asked questions about Tubulinopathy-associated dysgyria
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is Tubulinopathy-associated dysgyria?
Tubulinopathy-associated dysgyria is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:467166). It is typically inherited as variable. Age of onset is generally neonatal. For verified primary sources, see the UniteRare Tubulinopathy-associated dysgyria page.
How is Tubulinopathy-associated dysgyria inherited?
Tubulinopathy-associated dysgyria follows variable inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for Tubulinopathy-associated dysgyria?
Approved treatments for Tubulinopathy-associated dysgyria are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for Tubulinopathy-associated dysgyria?
Active clinical trials for Tubulinopathy-associated dysgyria are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for Tubulinopathy-associated dysgyria?
Verified Tubulinopathy-associated dysgyria specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full Tubulinopathy-associated dysgyria page for complete clinical details, sources, and verified-specialist listings.
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